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Cellosaurus CS28iALS-C9n1 (CVCL_W558)

[Text version]
Cell line name CS28iALS-C9n1
Synonyms CS28iALS-n1; 28iALS-n1
Accession CVCL_W558
Resource Identification Initiative To cite this cell line use: CS28iALS-C9n1 (RRID:CVCL_W558)
Comments From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24154603).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9T5 (F09128)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Web pages https://www.cedars-sinai.edu/Research/Research-Cores/Induced-Pluripotent-Stem-Cell-Core-/ALS-iPSC-Lines.aspx
Publications

PubMed=24154603; DOI=10.1126/scitranslmed.3007529; PMCID=PMC4090945
Sareen D., O'Rourke J.G., Meera P., Muhammad A.K.M.G., Grant S., Simpkinson M., Bell S., Carmona S., Ornelas L., Sahabian A., Gendron T.F., Petrucelli L., Baughn M., Ravits J., Harms M.B., Rigo F., Bennett C.F., Otis T.S., Svendsen C.N., Baloh R.H.
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Sci. Transl. Med. 5:208ra149.1-208ra149.13(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000320
Encyclopedic resources Wikidata; Q54814534
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15